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Identification of CYP19A1 single-nucleotide polymorphisms and their haplotype distributions in a Korean population.

Journal of human genetics - 1 Mar 2010

Lee Su-Jun, Kim Woo-Young, Choi Ji-Yeob, Lee Sang Seop, Shin Jae-Gook

Abstract excerpt

Aromatase, encoded by the CYP19A1 gene, is a key enzyme in the biosynthesis of estrogen. In an effort to screen for CYP19A1 single-nucleotide polymorphisms (SNPs) in Koreans, the CYP19A1 gene was directly sequenced in 50 normal subjects. A total of 19 variations were identified: four in exons, ten in introns, six in the 5'-untranslated region (UTR) and one in 3'-UTR. The distribution of CYP19A1 (TTTA)(n)...

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PMID: 20186154
DOI: 10.1038/jhg.2010.6

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